Varaico: Literature-Extracted Genetic Variants

Gene:RCN1
Variant:p.T76T

RCN1

30 papers

RefSeq Summary

Reticulocalbin 1 is a calcium-binding protein located in the lumen of the ER. The protein contains six conserved regions with similarity to a high affinity Ca(+2)-binding motif, the EF-hand. High cons...

Pfam Domains

EF-hand_5aa 209–233UCSCEF hand
EF-hand_5aa 250–274UCSCEF hand

Gene Aliases

HGNC Name

reticulocalbin 1

HGNC Alias Symbols

Rcal; PIG20; FLJ37041

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002901.4
p.T76T
c.228C>T
Surrounding Variants
2 papers
NM_002901.4
p.Q74E
c.220C>G
1 paper
NM_002901.4
p.D73Y
c.217G>T
1 paper
NM_002901.4
p.E82delFs
c.244_245delGA
1 paper
NM_002901.4
p.T71N
c.212C>A
1 paper
NM_002901.4
p.K70N
c.210G>C
1 paper
NM_002901.4
p.K70N
c.210G>T
1 paper
NM_002901.4
p.L84L
c.250C>T
1 paper
NM_002901.4
p.G85A
c.254G>C
1 paper
NM_002901.4
p.G46V
c.137G>T
1 paper
NM_002901.4
p.P31A
c.91C>G
1 paper
NM_002901.4
p.A29T
c.85G>A
1 paper
NM_002901.4
p.R9insFs
c.26dupG
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